ClinVar Miner

List of variants in gene SMARCA4 reported as likely benign for not specified

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Gene type:
ClinVar version:
Total variants: 84
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HGVS dbSNP gnomAD frequency
NM_003072.5(SMARCA4):c.3168+31C>G rs2075021 0.39914
NM_003072.5(SMARCA4):c.4584C>T (p.Asp1528=) rs9105 0.04127
NM_003072.5(SMARCA4):c.1413G>A (p.Lys471=) rs17001073 0.03431
NM_003072.5(SMARCA4):c.1509A>G (p.Ala503=) rs17001075 0.03015
NM_003072.5(SMARCA4):c.915G>A (p.Pro305=) rs149573400 0.01397
NM_003072.5(SMARCA4):c.1419+8C>T rs115492175 0.01292
NM_003072.5(SMARCA4):c.1114T>C (p.Tyr372His) rs140192268 0.01034
NM_003072.5(SMARCA4):c.930C>A (p.Arg310=) rs146141457 0.00837
NM_003072.5(SMARCA4):c.4768+15G>C rs113131294 0.00813
NM_003072.5(SMARCA4):c.4768+16G>T rs151265814 0.00684
NM_003072.5(SMARCA4):c.2002-19T>C rs111899994 0.00578
NM_003072.5(SMARCA4):c.222+14T>C rs112825147 0.00548
NM_003072.5(SMARCA4):c.1419+7T>C rs112977340 0.00546
NM_003072.5(SMARCA4):c.4494C>T (p.Tyr1498=) rs139505007 0.00434
NM_003072.5(SMARCA4):c.2001+8T>G rs112549813 0.00384
NM_003072.5(SMARCA4):c.222+18C>T rs180832203 0.00381
NM_003072.5(SMARCA4):c.1740A>G (p.Lys580=) rs114391904 0.00291
NM_003072.5(SMARCA4):c.4768+10G>A rs201665695 0.00200
NM_003072.5(SMARCA4):c.4227A>G (p.Ser1409=) rs61761958 0.00191
NM_003072.5(SMARCA4):c.3663G>A (p.Lys1221=) rs61761957 0.00158
NM_003072.5(SMARCA4):c.859+7T>A rs141461778 0.00138
NM_003072.5(SMARCA4):c.1419+9C>T rs374635008 0.00128
NM_003072.5(SMARCA4):c.4171-1737T>A rs199543083 0.00107
NM_003072.5(SMARCA4):c.223-5C>T rs376775933 0.00066
NM_003072.5(SMARCA4):c.708T>C (p.Pro236=) rs62639303 0.00044
NM_003072.5(SMARCA4):c.2973+14G>A rs372877301 0.00034
NM_003072.5(SMARCA4):c.1593+14T>A rs201395711 0.00033
NM_003072.5(SMARCA4):c.4635+11C>T rs369785711 0.00025
NM_003072.5(SMARCA4):c.1419+4C>T rs370219784 0.00021
NM_003072.5(SMARCA4):c.747C>T (p.Tyr249=) rs756224211 0.00021
NM_003072.5(SMARCA4):c.4170+16G>A rs191812860 0.00019
NM_003072.5(SMARCA4):c.417G>A (p.Pro139=) rs142092395 0.00019
NM_003072.5(SMARCA4):c.2739G>A (p.Pro913=) rs183695281 0.00014
NM_003072.5(SMARCA4):c.999C>T (p.Pro333=) rs538345417 0.00014
NM_003072.5(SMARCA4):c.690C>T (p.Pro230=) rs372941839 0.00013
NM_003072.5(SMARCA4):c.2409T>C (p.Asn803=) rs199634608 0.00012
NM_003072.5(SMARCA4):c.1236C>T (p.Phe412=) rs140000691 0.00011
NM_003072.5(SMARCA4):c.860-19G>T rs779390573 0.00009
NM_003072.5(SMARCA4):c.960C>T (p.Pro320=) rs531365419 0.00009
NM_003072.5(SMARCA4):c.*19C>T rs199852385 0.00008
NM_003072.5(SMARCA4):c.2002-20A>C rs369922926 0.00007
NM_003072.5(SMARCA4):c.3774+20C>T rs377640724 0.00007
NM_003072.5(SMARCA4):c.1119-6T>C rs368180712 0.00006
NM_003072.5(SMARCA4):c.888G>A (p.Thr296=) rs545237924 0.00006
NM_003072.5(SMARCA4):c.3168+13C>T rs535641983 0.00005
NM_003072.5(SMARCA4):c.3321C>T (p.Ser1107=) rs367786588 0.00005
NM_003072.5(SMARCA4):c.4032C>A (p.Pro1344=) rs745307333 0.00005
NM_003072.5(SMARCA4):c.726C>T (p.Pro242=) rs578260605 0.00005
NM_003072.5(SMARCA4):c.1813-19A>G rs373986576 0.00004
NM_003072.5(SMARCA4):c.4050C>T (p.Asp1350=) rs575792225 0.00004
NM_003072.5(SMARCA4):c.4491C>T (p.Tyr1497=) rs755142737 0.00004
NM_003072.5(SMARCA4):c.1748A>G (p.Lys583Arg) rs1043517699 0.00003
NM_003072.5(SMARCA4):c.223-7C>G rs762146990 0.00003
NM_003072.5(SMARCA4):c.3429C>T (p.Asn1143=) rs768127028 0.00003
NM_003072.5(SMARCA4):c.801C>T (p.Gly267=) rs539124305 0.00003
NM_003072.5(SMARCA4):c.1017C>T (p.Pro339=) rs772609063 0.00002
NM_003072.5(SMARCA4):c.1518G>A (p.Thr506=) rs145369952 0.00002
NM_003072.5(SMARCA4):c.2617-5C>T rs377743250 0.00002
NM_003072.5(SMARCA4):c.3873+6del rs751936459 0.00002
NM_003072.5(SMARCA4):c.3894C>T (p.Asp1298=) rs373041389 0.00002
NM_003072.5(SMARCA4):c.1245+19G>T rs552713877 0.00001
NM_003072.5(SMARCA4):c.2002-4G>A rs746254916 0.00001
NM_003072.5(SMARCA4):c.2418C>T (p.Phe806=) rs770432256 0.00001
NM_003072.5(SMARCA4):c.2506-14T>C rs751003991 0.00001
NM_003072.5(SMARCA4):c.3951+6C>T rs759241380 0.00001
NM_003072.5(SMARCA4):c.4176C>T (p.Ile1392=) rs767494921 0.00001
NM_003072.5(SMARCA4):c.4569C>T (p.Asn1523=) rs34389675 0.00001
NM_003072.5(SMARCA4):c.4764C>T (p.Ser1588=) rs754496173 0.00001
NM_003072.5(SMARCA4):c.828T>A (p.Pro276=) rs1057523267 0.00001
NM_003072.5(SMARCA4):c.961G>A (p.Ala321Thr) rs1344296942 0.00001
NM_003072.5(SMARCA4):c.1762-12C>T rs759160355
NM_003072.5(SMARCA4):c.1944-5dup rs1555768671
NM_003072.5(SMARCA4):c.223-11C>G rs1555751898
NM_003072.5(SMARCA4):c.223-4G>A rs763383326
NM_003072.5(SMARCA4):c.2316C>T (p.Asn772=) rs770548403
NM_003072.5(SMARCA4):c.3516C>T (p.Ile1172=) rs769327965
NM_003072.5(SMARCA4):c.3645A>G (p.Leu1215=) rs1555784535
NM_003072.5(SMARCA4):c.3952-11C>T rs1555785321
NM_003072.5(SMARCA4):c.4170+17C>T rs145829956
NM_003072.5(SMARCA4):c.4536G>A (p.Glu1512=) rs774583744
NM_003072.5(SMARCA4):c.4825C>T (p.Leu1609=) rs878854232
NM_003072.5(SMARCA4):c.6C>T (p.Ser2=) rs1555750570
NM_003072.5(SMARCA4):c.722_733del (p.229GP[6]) rs568390760
NM_003072.5(SMARCA4):c.761-14C>T rs1555754096

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